Canonical Allele Identifier: CA384414876

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 3229604
• ClinVar RCV Id: RCV004525180
• COSMIC: COSM1256888 ; COSM1256889
• MyVariant Identifiers: chr12:g.40692211T>C (hg19) ; chr12:g.40298409T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40298409T>C , CM000674.2:g.40298409T>C	GRCh38
NC_000012.11:g.40692211T>C , CM000674.1:g.40692211T>C	GRCh37
NC_000012.10:g.38978478T>C	NCBI36
NG_011709.1:g.78399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.3263T>C MANE Select	ENSP00000298910.7:p.Phe1088Ser
ENST00000679360.1:c.*2172T>C	ENSP00000505368.1:n.*2172T>C
ENST00000680790.1:c.3008T>C	ENSP00000505335.1:p.Phe1003Ser
ENST00000298910.11:c.3263T>C	ENSP00000298910.7:p.Phe1088Ser
ENST00000343742.6:c.3263T>C	ENSP00000341930.2:p.Phe1088Ser
ENST00000430804.5:c.307T>C
NM_198578.3:c.3263T>C	NP_940980.3:p.Phe1088Ser
XM_005268629.2:c.3263T>C	XP_005268686.1:p.Phe1088Ser
XM_011537877.1:c.3263T>C	XP_011536179.1:p.Phe1088Ser
XM_011537878.1:c.3263T>C	XP_011536180.1:p.Phe1088Ser
XM_011537879.1:c.2060T>C	XP_011536181.1:p.Phe687Ser
XM_011537880.1:c.3263T>C	XP_011536182.1:p.Phe1088Ser
XM_011537881.1:c.3263T>C	XP_011536183.1:p.Phe1088Ser
XM_011537882.1:c.3263T>C	XP_011536184.1:p.Phe1088Ser
XM_005268629.4:c.3263T>C	XP_005268686.1:p.Phe1088Ser
XM_011537877.3:c.3263T>C	XP_011536179.1:p.Phe1088Ser
XM_011537881.3:c.3263T>C	XP_011536183.1:p.Phe1088Ser
XM_011537882.3:c.3263T>C	XP_011536184.1:p.Phe1088Ser
XM_017018786.2:c.3263T>C	XP_016874275.1:p.Phe1088Ser
XM_017018787.1:c.179T>C	XP_016874276.1:p.Phe60Ser
XM_017018789.2:c.3263T>C	XP_016874278.1:p.Phe1088Ser
XM_024448833.1:c.2060T>C	XP_024304601.1:p.Phe687Ser
XR_001748574.2:n.3505T>C
NM_198578.4:c.3263T>C MANE Select	NP_940980.4:p.Phe1088Ser